A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606739



Internal ID6993674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128954264..128969226hg38UCSC Ensembl
chr5:128289957..128304919hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3814963
hg1914963
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12061018, essv12061017, essv12061019, essv12061021, essv12061020
SamplesHG00277, HG00278, NA20357, HG00343, HG00180
Known GenesSLC27A6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606739
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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